Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Has reproduction · 61
miEAA 2.0: integrating multi-species microRNA enrichment analysis and workflow management systems.
PMID 32374865 · PMC7319446 · Nucleic acids research · 2020 · 8 claims · 3 setups
miEAA 2.0 supports miRNA/precursor enrichment input from ten frequently investigated organisms, expanding beyond the human-only first release.
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.
PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups
β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas
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Has reproduction · 23
Accelerated Evolution of Tissue-Specific Genes Mediates Divergence Amidst Gene Flow in European Green Lizards.
PMID 33988711 · PMC8382678 · Genome biology and evolution · 2021 · 8 claims · 8 setups
The Adriatic lineage is a sister taxon to L. bilineata based on mitogenome and autosomal phylogenies
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Genome mapping and expression analyses of human intronic noncoding RNAs reveal tissue-specific patterns and enrichment in genes related to regulation of transcription.
PMID 17386095 · PMC1868932 · Genome biology · 2007 · 8 claims · 4 setups
More than 55,000 totally intronic noncoding (TIN) RNAs are transcribed from the introns of 74% of unique RefSeq genes.
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Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4).
PMID 9989976 · PMC2192941 · The Journal of experimental medicine · 1999 · 8 claims · 8 setups
The Lps locus was fine-mapped to a 0.9-cM interval spanning a 1.7-Mb genomic contig on mouse chromosome 4.
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Physiology engages with functional genomics - at last.
PMID 16086845 · PMC1273626 · Genome biology · 2005 · 8 claims · 8 setups
Large-scale QTL phenotyping in rat strains reveals that most hypertension-related traits are sexually dimorphic
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Organismal complexity, cell differentiation and gene expression: human over mouse.
PMID 17881362 · PMC2095826 · Nucleic acids research · 2007 · 8 claims · 7 setups
Human shows a greater fraction of tissue-specific genes and a greater ratio of total expression of tissue-specific to housekeeping genes than mouse across 32 homologous tissues
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Performance of mitochondrial DNA mutations detecting early stage cancer.
PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups
The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH
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Has reproduction · 78
4-Methylcytosine DNA modification is critical for global epigenetic regulation and virulence in the human pathogen Leptospira interrogans.
PMID 33301041 · PMC7708080 · Nucleic acids research · 2020 · 7 claims · 8 setups
A 4mC orphan MTase (lomA) is present only in the pathogenic (P) clade of Leptospira and methylates CTAG motifs.
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype